Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome

Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)

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Abstract

We present a new idiopathic intellectual disability syndrome accompanied with distinctive facial dysmorphology. X-chromosome inactivation assays reveal skewing in the mother, suggesting the possibility of an X-linked disorder. High-density genotyping arrays were performed on both children revealing no known causal or pathogenic SNVs and no known CNVs that might contribute to the phenotype. Whole genome sequencing was performed with Complete Genomics and subsequent sequence analysis led to the identification of several

Item Type: Conference or Workshop Item (Poster)
Subjects: diseases & disorders > congenital hereditary genetic diseases
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
diseases & disorders > congenital hereditary genetic diseases > mental retardation
bioinformatics > genomics and proteomics > personal genomes
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes
CSHL Authors:
Communities: CSHL labs > Lyon lab
Depositing User: Matt Covey
Date Deposited: 11 Apr 2013 15:04
Last Modified: 11 Apr 2013 15:22
URI: http://repository.cshl.edu/id/eprint/28122

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